Montserrat Ruiz
5PUBLICATIONS
32CO-AUTHORS
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Publications (5)
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|Sep 03, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão
|Apr 14, 2021
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain.Jesús Troya, Paul Bastard, Laura Planas-Serra
|Nov 27, 2020
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.Agustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura
|Dec 18, 2019
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez
|Aug 22, 2019
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez
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Frequent Collaborators
3 joint publications
Aurora Pujol
2 joint publications
Carlos Casasnovas
1 joint publications
Jesús Troya
1 joint publications
Paul Bastard
1 joint publications
Laura Planas-Serra
1 joint publications
Pablo Ryan
1 joint publications
María de Carranza
1 joint publications
Juan Torres
1 joint publications
Laurent Abel
1 joint publications
Jean-Laurent Casanova
